Varaico: Literature-Extracted Genetic Variants

UBA7

90 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

ThiFaa 15–395UCSCThiF family

E1_FCCHaa 187–257UCSCUbiquitin-activating enzyme E1 FCCH domain

E1_4HBaa 258–327UCSCUbiquitin-activating enzyme E1 four-helix bundle

ThiFaa 415–906UCSCThiF family

UBA_E1_SCCHaa 605–843UCSCUbiquitin-activating enzyme, SCCH domain

E1_UFDaa 914–1008UCSCUbiquitin fold domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 7

HGNC Previous Symbol

UBE1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003335.3

p.R474C

c.1420C>T

Surrounding Variants

1 paper

NM_003335.3

p.R479C

c.1435C>T

1 paper

NM_003335.3

p.A458T

c.1372G>A

1 paper

NM_003335.3

p.R501W

c.1501C>T

1 paper

NM_003335.3

p.D506Y

c.1516G>T

1 paper

NM_003335.3

p.Q508*

c.1522C>T

3 papers

NM_003335.3

p.V509M

c.1525G>A

2 papers

NM_003335.3

p.D416G

c.1247A>G

2 papers

NM_003335.3

p.R414H

c.1241G>A

1 paper

NM_003335.3

p.R411K

c.1232G>A

1 paper

NM_003335.3

p.T553S

c.1657A>T

1 paper

NM_003335.3

p.T553S

c.1658C>G

1 paper

NM_003335.3

p.L410_R411Splc

c.1230+3G>A